Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 43574077 | intron variant | ATTTT/- | delins | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 19 | 43554740 | missense variant | C/A;T | snv | 4.0E-06; 4.9E-04 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 19 | 43545922 | missense variant | C/G | snv | 1.6E-05 | 2.1E-05 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||||
|
0.882 | 0.120 | 19 | 43545922 | missense variant | C/G | snv | 1.6E-05 | 2.1E-05 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.882 | 0.120 | 19 | 43545922 | missense variant | C/G | snv | 1.6E-05 | 2.1E-05 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 19 | 43546884 | missense variant | C/G | snv | 3.2E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.100 | 0.900 | 10 | 2001 | 2019 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms | 0.100 | 0.800 | 10 | 2004 | 2019 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Digestive System Diseases; Neoplasms | 0.100 | 0.700 | 10 | 2009 | 2020 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.100 | 0.900 | 10 | 2001 | 2019 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.100 | 0.900 | 10 | 2001 | 2019 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms | 0.100 | 0.800 | 10 | 2004 | 2019 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms | 0.090 | 0.889 | 9 | 2012 | 2017 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.080 | 0.875 | 8 | 2007 | 2017 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.080 | 0.875 | 8 | 2007 | 2017 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.080 | 0.875 | 8 | 2007 | 2017 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.070 | 0.714 | 7 | 2003 | 2016 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.070 | 0.714 | 7 | 2003 | 2016 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Digestive System Diseases; Neoplasms | 0.060 | 0.667 | 6 | 2002 | 2016 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Digestive System Diseases; Neoplasms | 0.060 | 0.667 | 6 | 2002 | 2016 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.050 | 0.200 | 5 | 2012 | 2017 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.050 | 0.200 | 5 | 2012 | 2017 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.050 | 0.200 | 5 | 2012 | 2017 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Digestive System Diseases; Neoplasms | 0.040 | 1.000 | 4 | 2010 | 2013 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.040 | 0.750 | 4 | 2006 | 2016 |